Some Good News!

Today we got a phone call with the last of the test results from our amniocentesis. The karyotype test confirmed what the NIPT, and FISH tests have told us the whole time, that Milo has Trisomy 13. The good news in this, is that the karyotype test showed that he has a third, free-standing chromosome which means that there is no hereditary component and it's just that he won the genetic lottery. If it had been attached to the chromosome pair, Josh and I would have had to undergo further genetic testing. 

Our team also did a test from the amniotic fluid called the AFP test. AFP stands for Alpha-Fetoprotein. Elevated levels are often associated with neural tube defects or other defects in the abdomen. Our AFP levels were elevated, however the care team reviewed the scans from a few weeks ago and there were no findings in the scans to support the AFP results. There are some other potential causes such as placental bleeding, which they had found but were not concerned with at this point. There could also be some liver concerns for me. At my 6 week postpartum check, I will have my AFP checked again and this looked into further if needed. The genetic counselor told me she'd put it in my chart so I don't have to try to remember it at that point, which I appreciate because the mental load is a bit much right now! 

Our next steps involve getting the next appointments scheduled with our care team. I'm not sure what that looks like at this point. This being my third pregnancy, you'd think I'd have this down by now but this is certainly not the case. It's been very interesting since receiving Milo's T13 diagnosis because we get much more of a choice in our prenatal care. In our initial care team meeting, we were told we could do as many or few prenatal appointments as we wanted. This just seems so odd to me, especially since I've had other pregnancy complications with the other two (pre-eclampsia and gestational diabetes). We obviously have chosen to move forward with proactive prenatal care. We want to continue to see how Milo grows and more opportunities to see his sweet face, to monitor my health as we continue the pregnancy, and to determine what necessary interventions we can take once he's here. 

I will say, I am so appreciative of what an active of a baby he is. This morning, I woke at 6:20 to him kicking so hard I could see and feel it outside my belly. He's just making sure to remind me what a fighter he is. 

Please know every card, message, phone call, comment, etc. is read, and we are so appreciative of all the love and support we've received in this journey. It's not a road we ever expected to be on, but we are eternally grateful for each and every one of you, and for this sweet boy I'm growing. 💛